rs118204103

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;A)	5	Porphyria, acute intermittent
(A;G)	4	Acute intermittent porphyria
(G;G)	0	common in clinvar

Reference

GRCh38 38.1/141

Chromosome

11

Position

119088298

Gene

HMBS

is a	snp
is	mentioned by
dbSNP	rs118204103
dbSNP (classic)	rs118204103
ClinGen	rs118204103
ebi	rs118204103
HLI	rs118204103
Exac	rs118204103
Gnomad	rs118204103
Varsome	rs118204103
LitVar	rs118204103
Map	rs118204103
PheGenI	rs118204103
Biobank	rs118204103
1000 genomes	rs118204103
hgdp	rs118204103
ensembl	rs118204103
geneview	rs118204103
scholar	rs118204103
google	rs118204103
pharmgkb	rs118204103
gwascentral	rs118204103
openSNP	rs118204103
23andMe	rs118204103
SNPshot	rs118204103
SNPdbe	rs118204103
MSV3d	rs118204103
GWAS Ctlg	rs118204103

Max Magnitude

5

OMIM	609806
Desc
Variant	0015
Related	also

ClinVar
Risk	Rs118204103(A;A)
Alt	Rs118204103(A;A)
Reference	Rs118204103(G;G)
Significance	Pathogenic
Disease	Acute intermittent porphyria
Variation	info
Gene	HMBS
CLNDBN	Acute intermittent porphyria
Reversed	0
HGVS	NC_000011.9:g.118959008G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000001508.3,